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大型溞中引起结构变异的突变率的种内变异。

Intraspecific Variation in the Rates of Mutations Causing Structural Variation in Daphnia magna.

机构信息

Department of Biology, Reed College, Portland, Oregon, USA.

出版信息

Genome Biol Evol. 2021 Dec 1;13(12). doi: 10.1093/gbe/evab241.

Abstract

Mutations that cause structural variation are important sources of genetic variation upon which other evolutionary forces can act, however, they are difficult to observe and therefore few direct estimates of their rate and spectrum are available. Understanding mutation rate evolution, however, requires adding to the limited number of species for which direct estimates are available, quantifying levels of intraspecific variation in mutation rates, and assessing whether rate estimates co-vary across types of mutation. Here, we report structural variation-causing mutation rates (svcMRs) for six categories of mutations (short insertions and deletions, long deletions and duplications, and deletions and duplications at copy number variable sites) from nine genotypes of Daphnia magna collected from three populations in Finland, Germany, and Israel using a mutation accumulation approach. Based on whole-genome sequence data and validated using simulations, we find svcMRs are high (two orders of magnitude higher than base substitution mutation rates measured in the same lineages), highly variable among populations, and uncorrelated across categories of mutation. Furthermore, to assess the impact of scvMRs on the genome, we calculated rates while adjusting for the lengths of events and ran simulations to determine if the mutations occur in genic regions more or less frequently than expected by chance. Our results pose a challenge to most prevailing theories aimed at explaining the evolution of the mutation rate, underscoring the importance of obtaining additional mutation rate estimates in more genotypes, for more types of mutation, in more species, in order to improve our future understanding of mutation rates, their variation, and their evolution.

摘要

导致结构变异的突变是遗传变异的重要来源,其他进化力量可以在此基础上发挥作用,然而,它们很难观察到,因此直接估计它们的速率和范围的方法很少。然而,要了解突变率的进化,就需要在直接估计可用的有限数量的物种中增加,量化突变率的种内变异水平,并评估速率估计是否在不同类型的突变中共同变化。在这里,我们使用突变积累方法,从芬兰、德国和以色列的三个种群中收集的 9 个 Daphnia magna 基因型中,报告了 6 类突变(短插入和缺失、长缺失和重复、以及在拷贝数可变位点的缺失和重复)引起的结构变异突变率(svcMR)。基于全基因组序列数据并通过模拟进行验证,我们发现 svcMR 很高(比在同一谱系中测量的碱基替换突变率高两个数量级),在种群之间高度可变,并且与突变类别无关。此外,为了评估 scvMR 对基因组的影响,我们在调整事件长度的同时计算了速率,并进行了模拟,以确定突变是否比预期更频繁地发生在基因区域中。我们的结果对旨在解释突变率进化的大多数流行理论提出了挑战,强调了在更多基因型、更多类型的突变、更多物种中获得额外的突变率估计的重要性,以便更好地了解突变率、它们的变异及其进化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/312f/8691059/7a9da470a280/evab241f1.jpg

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